当前位置： SCI文献检索 > JOURNAL OF PHARMACEUTICAL AND BIOMEDICAL ANALYSIS期刊下所有文献 > Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency.

Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency.

Abstract：

:In an expanded newborn screening program for inborn errors of metabolism by LC-MS/MS in Tuscany, six newborns out of 169,000 showed decreased blood citrulline levels. In one of them, molecular analysis of the OTC gene identified the known p.Trp265Leu mutation, which is correlated with late-onset ornithine transcarbamylase deficiency (OTCD). Hypocitrullinemia is not a reliable marker for OTCD newborn screening, especially for late-onset forms that may exhibit normal citrulline levels. However, when hypocitrullinemia is detected in a newborn in whom intestinal dysfunction and prematurity have been excluded, OTCD should be investigated first because of the OTCD incidence (1:14,000) and the small size of the OTC gene coding sequence.

journal_name

J Pharm Biomed Anal

journal_title

Journal of pharmaceutical and biomedical analysis

authors

Cavicchi C,Malvagia S,la Marca G,Gasperini S,Donati MA,Zammarchi E,Guerrini R,Morrone A,Pasquini E

doi

10.1016/j.jpba.2009.03.001

subject

Has Abstract

pub_date

2009-07-12 00:00:00

pages

1292-5

issue

5

eissn

0731-7085

issn

1873-264X

pii

S0731-7085(09)00163-0

journal_volume

49

pub_type

杂志文章

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